Huntsville, Ala. — HudsonAlpha Institute for Biotechnology, a nonprofit genomics and genetics research institute in Huntsville, Ala., in collaboration with the University of Alabama at Birmingham (UAB) School of Medicine and the University of Mississippi Medical Center, has been awarded a four-year, $10 million grant from the National Institutes of Health (NIH) to investigate how genome sequencing can help with the diagnosis and care of babies with birth defects and genetic disorders.
The project, “SouthSeq: DNA Sequencing for Newborn Nurseries in the South,” is part of a network of nationwide sites called the Clinical Sequencing Evidence-Generating Research Consortium, or CSER2, and will enroll infants in neonatal nurseries with birth defects and/or other signs suggestive of a genetic disorder. The project is being led by HudsonAlpha Faculty Investigator Greg Cooper, PhD, together with HudsonAlpha Faculty Investigator Greg Barsh, MD, PhD; and Bruce Korf, MD, PhD, professor and chair of the UAB Department of Genetics.
CSER2 expands HudsonAlpha’s existing large-scale DNA sequencing research project, the Clinical Sequencing Exploratory Research Consortium (CSER), also led by Cooper, in which collaborations with UAB and Children’s of Alabama North Alabama Children’s Specialists (NACS) have provided genetic diagnoses for children with intellectual disabilities and developmental delay. To date, the team has sequenced the genomes of almost 500 children with developmental delay and helped to provide more precise clinical diagnoses to nearly 30%.
“The previous CSER project allowed HudsonAlpha to develop the infrastructure, knowledge, and partnerships needed for genomic medicine,” said Cooper, “and this new phase of work will build directly upon that foundation, particularly in underserved and diverse populations for whom genomics and genetics have not been accessible.”
For CSER2, the clinical sites will expand beyond North Alabama to focus on infants in hospitals in other regions of the Deep South. Regions include the Birmingham area and Jackson, Miss., where the project directors are Renate Savich, MD, division chief of Newborn Medicine, and Brian Kirmse, MD, associate professor of Pediatrics.
“These regional partnerships improve our ability to help children and their families by providing a genetic diagnosis as early as possible,” said Barsh, who brings 20 years of experience as a medical geneticist to the CSER2 team.
“A major goal of CSER2 is to see if we can empower non-genetics trained health professionals to accurately and thoroughly explain the results of genomic testing to families,” said Korf. “Because of a shortage of trained medical geneticists and genetic counselors, we need new paradigms in order to provide the benefits of genomic testing to more patients and families. The need is especially acute in our underserved populations, where new models of return of genomic results could be very valuable in community hospital settings.”
The National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) have partnered with the National Institute on Minority Health and Health Disparities (NIMHD) to improve the current processes of recruiting patients to be part of the research, testing and follow-up of study participants from diverse racial and ethnic groups, as well as those from currently understudied clinical healthcare settings where genomic medicine might be put into practice.
“CSER’s initial goal was more exploratory in nature to see if we could, in fact, integrate genome sequencing with clinical care,” said Lucia Hindorff, PhD, MPH, program director in NHGRI’s Division of Genomic Medicine. “The exploratory focus allowed each site to develop its own approach. Working together, CSER sites were effective in identifying common challenges and opportunities to support this integration.”
In the fiscal year 2017, CSER2 is awarding the grants to six clinical sites, which includes HudsonAlpha, and one coordinating center. The awards extend for a total of four years. The clinical sites – all with a goal of recruiting at least 60% of participants from diverse or underserved settings – boast research that covers geographical areas from the racially diverse populations in Houston, Texas, to the underrepresented minority populations in Harlem and the Bronx.
With the help of the coordinating center, which assures the organization and logistical support needed to identify new synergies that increase the scientific value of the six individual projects, CSER2 will continue to develop and enhance the evidence base required to bring genome sequencing to non-academic centers, as well as to diverse patient groups.
Research reported in this publication was supported by the National Human Genome Research Institute and the National Cancer Institute of the National Institutes of Health under Award Number U01HG007301. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to innovating in the field of genomic technology and sciences across a spectrum of biological challenges. Opened in 2008, its mission is four-fold: sparking scientific discoveries that can impact human health and well-being; bringing genomic medicine into clinical care; fostering life sciences entrepreneurship and business growth; and encouraging the creation of a genomics-literate workforce and society. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. Designed to be a hothouse of biotech economic development, HudsonAlpha’s state-of-the-art facilities co-locate nonprofit scientific researchers with entrepreneurs and educators. The relationships formed on the HudsonAlpha campus encourage collaborations that produce advances in medicine and agriculture. HudsonAlpha has become a national and international leader in genetics and genomics research and biotech education, and includes more than 30 diverse biotech companies on campus. To learn more about HudsonAlpha, visit hudsonalpha.org.
About UAB Medicine: UAB Medicine comprises the School of Medicine and the $3 billion UAB Health System that includes all of the University of Alabama at Birmingham’s patient-care activities and 2,300 licensed beds in six hospitals, one of which is UAB Hospital — the third-largest public hospital in the United States, winner of the Women’s Choice award, and one of U.S. News & World Report’s Best Hospitals. UAB is the state of Alabama’s largest single employer and an internationally renowned research university and academic health center; its professional schools and specialty patient-care programs are consistently ranked among the nation’s top 50. UAB is the largest academic medical center in Alabama and one of the top four largest academic medical centers in the United States. UAB’s Center for Clinical and Translational Science is advancing innovative discoveries for better health as a two-time recipient of the prestigious Center for Translational Science Award. Find more information at www.uab.edu and www.uabmedicine.org.
About National Human Genome Research Institute: NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research, and training and career development at sites nationwide. Additional information about NHGRI can be found at www.genome.gov.
About National Cancer Institute (NCI): NCI leads the National Cancer Program and the NIH’s efforts to dramatically reduce the prevalence of cancer and improve the lives of cancer patients and their families, through research into prevention and cancer biology, the development of new interventions, and the training and mentoring of new researchers. For more information about cancer, please visit the NCI website at cancer.gov or call NCI’s Cancer Information Service at 1-800-4-CANCER.
About National Institute on Minority Health and Health Disparities (NIMHD): NIMHD is one of NIH’s 27 Institutes and Centers. It leads scientific research to improve minority health and eliminate health disparities by conducting and supporting research; planning, reviewing, coordinating, and evaluating all minority health and health disparities research at NIH; promoting and supporting the training of a diverse research workforce; translating and disseminating research information; and fostering collaborations and partnerships. For more information about NIMHD, visit http://www.nimhd.nih.gov.
About National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical and translational medical research, and is investigating the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
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